Allele Registry

Canonical Allele Identifier: PA103405

Gene: NPC1 HGNC NCBI

ClinVar Allele:

18010

ClinVar RCV:

RCV000003105

RCV000212760

ClinVar Variation:

2971

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Val950Met	CA281534 NM_000271.5:c.2848G>A